Annotation Detail
Information
- Associated Genes
- FOXL2
- Associated Variants
-
FOXL2 p.Gly187Asp (p.G187D)
(
ENST00000648323.1 )
FOXL2 p.Gly187Asp (p.G187D) ( ENST00000648323.1 ) - Associated Disease
- Premature ovarian failure 3
- Source Database
- ClinVar
- Description
- NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) AND Premature ovarian failure 3
- ClinVar Allele ID
- 19910
- ClinVar RefSeq Alternation Syntax
- NM_023067.4:c.560G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-07-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005147
- ClinVar Disease
- Premature ovarian failure 3
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 12161610
- Pubmed
- 19429596
Drugs